Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
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Pathogenic variants of genes encoding initiation factors can cause neurological diseases, including neurodevelopmental disorders and brain abnormalities. The eukaryotic translation initiation factor 1 A, X-linked (EIF1AX) is a gene located at Xp22.12 that play... ...
